Mutation analysis of the ATP7B gene in a new group of Wilson%26apos;s disease patients: Contribution to diagnosis

作者：Lepori Maria Barbara; Zappu Antonietta; Incollu Simona; Dessi Valentina; Mameli Eva; Demelia Luigi; Nurchi Anna Maria; Gheorghe Liana; Maggiore Giuseppe; Sciveres Marco; Leuzzi Vincenzo; Indolfi Giuseppe; Bonafe Luisa; Casali Carlo; Angeli Paolo; Barone Patrizia; Cao Antonio; Loudianos Georgios^*

来源：Molecular and Cellular Probes, 2012, 26(4): 147-150.

DOI：10.1016/j.mcp.2012.03.007

• Wilson%26apos
• s disease
• ATP7B
• Mutation
• Missense
• Diagnosis
• Prevention

Wilson%26apos;s disease (WD), an autosomal recessive disorder of copper transport with a broad range of genotypic and phenotypic characteristics, results from mutations in the ATP7B gene. Herein we report the results of mutation analysis of the ATP7B gene in a group of 118 Wilson disease families (236 chromosomes) prevalently of Italian origin. Using DNA sequencing we identified 83 disease-causing mutations. Eleven were novel, while twenty one already described mutations were identified in new populations in this study. In particular, mutation analysis of 13 families of Romanian origin showed a high prevalence of the p.H1069Q mutation (50%). Detection of new mutations in the ATP7B gene in new populations increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.

• 出版日期2012-8